G139A (p.Gly139Ala) variant of SLC26A4 (Pendrin)
G139A (p.Gly139Ala) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G139A (p.Gly139Ala) variant details
- p.Gly139Ala
- rs756272252
- ClinGen CA368847780
- ClinVar RCV000672039
- ClinVar RCV001004623
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Structural context available
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)
- Cited in: Two frequent missense mutations in Pendred syndrome. (PMID 9618166)